Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Human genetics - 1 May 2007

Ali Ghazanfar, Chishti Muhammad Salman, Raza Syed Irfan, John Peter, Ahmad Wasim

Abstract excerpt

Hereditary hypotrichosis is a rare autosomal recessive disorder characterized by sparse hair on scalp and rest of the body of affected individuals. Two forms of such hypotrichosis LAH and AH have been mapped on chromosome 18q12.1 and 3q27, respectively. Mutations in desmogelin 4 (DSG4) gene have been reported to underlie LAH. Recently, a deletion mutation in Lipase H (LIPH) gene, located at AH locus, has been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exons
Share to Chromosomes, Human, Pair 3
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Hypotrichosis

Share to Lipase

Share to Pakistan

Share to Sequence Deletion

Source

Identifiers

PMID: 17333281
DOI: 10.1007/s00439-007-0344-0

Genes

LIPH
DSG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.PMID 17333281Read ↗

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).Semantic proximity Read ↗

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.Semantic proximity Read ↗

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.Semantic proximity Read ↗

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.Semantic proximity Read ↗

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.Semantic proximity Read ↗

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.Semantic proximity Read ↗

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.Semantic proximity Read ↗

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.